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Moreno-Pelayo, Miguel A.
220  Ergebnisse:
Personensuche X
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1

Novel Cases of Non-Syndromic Hearing Impairment Caused by P..:

Domínguez-Ruiz, María ; Olarte, Margarita ; Onecha, Esther...
Genes.  15 (2024)  7 - p. 951 , 2024
Link: https://doi.org/10.3390/..
 
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2

Evolution of CRISPR-associated endonucleases as inferred fr..:

Alonso-Lerma, Borja ; Jabalera, Ylenia ; Samperio, Sara...
Nature Microbiology.  8 (2023)  1 - p. 77-90 , 2023
Link: https://doi.org/10.1038/..
 
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3

Genetic Evaluation of Prelingual Hearing Impairment: Recomm..:

Jonard, Laurence ; Brotto, Davide ; Moreno-Pelayo, Miguel A....
Audiology Research.  13 (2023)  3 - p. 341-346 , 2023
Link: https://doi.org/10.3390/..
 
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4

Novel Pathogenic Variants in the Gene Encoding Stereocilin ..:

Domínguez-Ruiz, María ; Ruiz-Palmero, Laura ; Buonfiglio, Paula I....
Biomedicines.  11 (2023)  11 - p. 2943 , 2023
Link: https://doi.org/10.3390/..
 
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5

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvak..:

Domínguez-Ruiz, María ; Rodríguez-Ballesteros, Montserrat ; Gandía, Marta...
Genes.  13 (2022)  1 - p. 149 , 2022
Link: https://doi.org/10.3390/..
 
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6

Genetic etiology of non-syndromic hearing loss in Europe:

del Castillo, Ignacio ; Morín, Matías ; Domínguez-Ruiz, María.
Human Genetics.  , 2022
Link: https://doi.org/10.1007/..
 
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7

Perrault syndrome with neurological features in a compound ..:

Domínguez-Ruiz, María ; García-Martínez, Alberto ; Corral-Juan, Marc...
Journal of Translational Medicine.  17 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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8

Consensus interpretation of the p.Met34Thr and p.Val37Ile v..:

Shen, Jun ; Oza, Andrea M. ; del Castillo, Ignacio...
Genetics in Medicine.  21 (2019)  11 - p. 2442-2452 , 2019
Link: https://doi.org/10.1038/..
 
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9

Primary T-cell immunodeficiency with functional revertant s..:

Marin, Ana V. ; Jiménez-Reinoso, Anaïs ; Briones, Alejandro C....
Journal of Allergy and Clinical Immunology.  139 (2017)  1 - p. 347-349.e8 , 2017
Link: https://doi.org/10.1016/..
 
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10

Correction: A Novel Splice-Site Mutation in the GJB2 Gene C..:

Gandía, Marta ; del Castillo, Francisco J. ; Rodríguez-Álvarez, Francisco J....
PLoS ONE.  9 (2014)  1 - p. , 2014
Link: https://doi.org/10.1371/..
 
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11

A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild ..:

Gandía, Marta ; del Castillo, Francisco J. ; Rodríguez-Álvarez, Francisco J....
PLoS ONE.  8 (2013)  9 - p. e73566 , 2013
Link: https://doi.org/10.1371/..
 
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12

A Spanish sporadic case of deafness–dystonia (Mohr-Tranebja..:

Aguirre, Luis A. ; Pérez-Bas, Manuel ; Villamar, Manuela...
Neuromuscular Disorders.  18 (2008)  12 - p. 979-981 , 2008
Link: https://doi.org/10.1016/..
 
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13

Gly111Ser mutation in CD8A gene causing CD8 immunodeficienc..:

Mancebo, Esther ; Moreno-Pelayo, Miguel A. ; Mencía, Ángeles...
Molecular Immunology.  45 (2008)  2 - p. 479-484 , 2008
Link: https://doi.org/10.1016/..
 
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14

Specific correction of pyruvate kinase deficiency-causing p..:

Fañanas-Baquero, Sara ; Morín, Matías ; Fernández, Sergio...
Frontiers in Genome Editing.  5 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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15

Insights into the pathophysiology of DFNA44 hearing loss as..:

Lachgar-Ruiz, María ; Morín, Matías ; Martelletti, Elisa...
Disease Models & Mechanisms.  16 (2023)  8 - p. , 2023
Link: https://doi.org/10.1242/..
 
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